Nelson Martins

Nelson Martins is a Portuguese, curious, and responsible biochemist with an insatiable will to unravel the mysteries behind biology and human diseases. Genetics is the topic that he is most passionate about, mainly understanding how diseases are passed down through generations.
Nelson graduated from the University of Porto with a master's degree in Molecular Medicine and Oncology. His thesis, which was completed at the Instituto de Investigação e Inovação em Saúde (i3S, Porto, Portugal), focused on the Impact of Somatic Loss of regulatory elements in Breast Cancer Progression and included a stay at CRUK – Cambridge Institute. Additionally, he participated in the European project Solve-RD (Solving the Unsolved Rare Diseases), contributing to the ERN GENTURIS team’s efforts to identify genetic diagnoses for patients with extreme phenotypes

Nelson has gained experience in both wet and dry lab settings while gaining expertise in Regulatory Elements, Whole Genome Sequence variant interpretation, and large-scale cohort genomics and transcriptomics.

Mapping of 3D genome topologies in human retina, RPE, PPCs and ROs

Non-coding structural variants (SVs) and regulatory single-nucleotide variants (SNVs) are still underrepresented in the mutation spectrum of IRD, often due to an interpretation gap. A missing link is the 3D interaction between cis-regulatory elements (CREs) and their target genes within topologically associating domains or TADs. Using chromatin interaction mapping (Hi-C) we have recently shown a differential 3D genome architecture of human retina and retinal pigment epithelium (RPE). DC5 will investigate if C-technologies on clinically accessible tissues (LCLs/fibroblasts) and on retinal stem cells (photoreceptor precursor cells/PPCs, retinal organoids/ROs) can be used to evaluate the effect of SVs causing IRD on the 3D genome. Following up on our previous Hi-C studies on retina, RPE, LCLs and fibroblasts, DC5 will perform an adapted Hi-C protocol (low-C) on PPCs and ROs. Apart from short-read sequencing-based Hi-C, DC5 will apply long-read sequencing-based Pore-C to retina, RPE, PPCs and ROs to generate a reference dataset that allows to unravel regulatory mechanisms within IRD loci, and to resolve complex SV. DC5 will assess the conservation of the 3D architecture between these cell types on a genomewide scale with special attention to adIRD loci. Next, DC5 will use the generated 3D data and perform C-technologies on available patient-derived cells as a phenotyping tool to map and interpret non-coding SVs found in genome data of unsolved IRD patients. Finally, C-technologies and insights from non-coding SV interpretation will ultimately improve genetic diagnoses in IRD.